{"doi":"10.1002/mdc3.14354","title":"Prevalence of Parkinson's Disease in 22q11.2 Deletion Syndrome: A Multicenter Study","abstract":"BACKGROUND: 22q11.2 deletion syndrome (22q11.2DS) has been associated with increased risk of early-onset Parkinson's disease (PD). OBJECTIVE: To determine the prevalence and predictors of PD in a large international 22q11.2DS sample. METHODS: The sample comprised 856 adults (median age 28 (range 16-76) years; 53.0% female). PD was defined as clinical diagnosis by a neurologist (including bradykinesia, rest tremor and/or rigidity). Age-specific risk and predictors of PD were analyzed using Kaplan-Meier curve and Cox regression. RESULTS: PD was present in 1.8% (95% CI: 0.9-2.6%) of the sample, 3.4% (95% CI: 2.2-4.6%) when including uncertain PD (clinical diagnosis or suspicion, but not meeting all criteria), and 14.0% (95% CI: 6.9-21.0%) of those aged ≥50 years. Median age at motor onset was 45 (range 20-66) years. None of the factors considered were associated with PD. CONCLUSIONS: Given high PD prevalence and young onset, we propose periodic motor evaluations from age 40 years in 22q11.2DS.","journal":"Movement Disorders Clinical Practice","year":2025,"id":531924,"datarank":0.0,"base_score":0.0,"endowment":0.0,"self_citation_contribution":0.0,"citation_network_contribution":0.0,"self_endowment_contribution":0.0,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":3,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.8138,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2025-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":263881,"name":"Ann Swillen","orcid":"0000-0003-4258-4537","position":1,"is_corresponding":false},{"id":263913,"name":"Gabriela M. Repetto","orcid":"0000-0003-0120-5684","position":2,"is_corresponding":false},{"id":1074872,"name":"Nikolai Gil D. Reyes","orcid":"0000-0001-8762-6556","position":3,"is_corresponding":false},{"id":17424,"name":"Anthony E. Lang","orcid":"0000-0003-1229-3667","position":4,"is_corresponding":false},{"id":341997,"name":"Connie Marras","orcid":"0000-0002-9236-9328","position":5,"is_corresponding":false},{"id":807646,"name":"Mark L. Kuijf","orcid":"0000-0002-7284-5833","position":6,"is_corresponding":false},{"id":663197,"name":"Rob P.W. Rouhl","orcid":"0000-0002-0004-1860","position":7,"is_corresponding":false},{"id":726980,"name":"Agnies M. van Eeghen","orcid":"0000-0001-8149-8645","position":8,"is_corresponding":false},{"id":1412708,"name":"Carlos Juri","orcid":"0000-0002-1939-5976","position":9,"is_corresponding":false},{"id":265428,"name":"Annick Vogels","orcid":null,"position":10,"is_corresponding":false},{"id":236940,"name":"Thérèse van Amelsvoort","orcid":"0000-0003-1135-5133","position":11,"is_corresponding":false},{"id":418644,"name":"Anne S. Bassett","orcid":"0000-0002-0681-7279","position":12,"is_corresponding":false},{"id":263901,"name":"Erik Boot","orcid":"0000-0002-0593-1539","position":13,"is_corresponding":false},{"id":988483,"name":"Emma N. M. M. von Scheibler","orcid":"0000-0001-8698-946X","position":0,"is_corresponding":true}],"reference_count":25,"raw_metadata":null,"created_at":"2026-07-19T02:51:18.928280Z","pmid":"39918054","pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}